'Finnish' Mutations in LDL Receptor Gene: A Rare Cause of Familial Hypercholesterolemia in St. Petersburg and Petrozavodsk
| Autor: | A. S. Golovina, B. M. Lipovetskii, Vadim B. Vasilyev, M. P. Serebrenitskaya, M. Yu. Mandelshtam, F. M. Zakharova, N. A. Grudinina, V. O. Konstantinov, V. A. Korneva, T. Yu. Komarova |
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| Rok vydání: | 2013 |
| Předmět: |
Genetics
Ldl receptor gene Mutation Sequence analysis Incidence St petersburg Sequence Analysis DNA General Medicine Familial hypercholesterolemia Biology medicine.disease_cause medicine.disease General Biochemistry Genetics and Molecular Biology Russia Hyperlipoproteinemia Type II Receptors LDL Polymorphism (computer science) LDL receptor medicine Humans In patient Multiplex Polymerase Chain Reaction Finland Polymorphism Single-Stranded Conformational Sequence Deletion |
| Zdroj: | Bulletin of Experimental Biology and Medicine. 155:380-383 |
| ISSN: | 1573-8221 0007-4888 |
| DOI: | 10.1007/s10517-013-2159-4 |
| Popis: | The search for two mutations, FH-Helsinki and FH-North Karelia, in LDL receptor gene was carried out in patients with familial hypercholesterolemia from St. Petersburg (80 families) and Petrozavodsk (80 families) using allele-specific PCR and analysis of single-stranded DNA fragment conformation polymorphism (SSCP analysis) with subsequent sequencing. The FH-North Karelia mutation was found in one family in St. Petersburg and in one family in Petrozavodsk, while FH-Helsinki mutation was not detected in any of the samples. Hence, the two "Finnish" mutations together responsible for 2/3 familial hypercholesterolemia cases in Finland were extremely rare in the Russian regions neighboring Finland. |
| Databáze: | OpenAIRE |
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